Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs10038177
rs10038177
WDR36
3 0.925 0.040 5 111100751 intron variant C/T snv 0.53 0.54 0.010 1.000 1 2017 2017
dbSNP: rs1020338837
rs1020338837
AZI2
1 1.000 0.040 3 28340470 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1035650739
rs1035650739
NR1H2 ; NAPSA ; LOC105372437
1 1.000 0.040 19 50362252 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1042713
rs1042713
ADRB2
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.010 1.000 1 2002 2002
dbSNP: rs10483727
rs10483727 		4 0.851 0.040 14 60606157 upstream gene variant T/C snv 0.45 0.010 1.000 1 2016 2016
dbSNP: rs116529882
rs116529882
WDR36
2 0.925 0.040 5 111110280 missense variant G/A snv 7.5E-04 8.9E-04 0.010 1.000 1 2005 2005
dbSNP: rs11656696
rs11656696
GAS7
5 0.882 0.040 17 10130362 intron variant C/A snv 0.36 0.010 1.000 1 2012 2012
dbSNP: rs1210326005
rs1210326005
LOXL1 ; LOXL1-AS1
1 1.000 0.040 15 73927510 missense variant C/G;T snv 1.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs12154178
rs12154178
ESR1
2 0.925 0.040 6 151929945 intron variant C/A snv 0.59 0.010 1.000 1 2019 2019
dbSNP: rs121909193
rs121909193
MYOC ; MYOCOS
2 0.925 0.040 1 171636349 missense variant C/A snv 0.010 1.000 1 2006 2006
dbSNP: rs121909194
rs121909194
MYOC ; MYOCOS
3 0.882 0.040 1 171636302 missense variant C/G snv 0.010 1.000 1 2007 2007
dbSNP: rs121918071
rs121918071
TTR
4 0.882 0.240 18 31595209 missense variant C/A snv 0.010 1.000 1 2019 2019
dbSNP: rs12377632
rs12377632
TLR4
5 0.827 0.120 9 117710452 intron variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs1256031
rs1256031
ESR2
9 0.790 0.200 14 64279461 intron variant G/A;T snv 0.57 0.010 1.000 1 2010 2010
dbSNP: rs12994401
rs12994401
LOC730100
2 0.925 0.040 2 51845108 intron variant C/T snv 0.18 0.010 1.000 1 2011 2011
dbSNP: rs13178997
rs13178997
WDR36
2 0.925 0.040 5 111108550 intron variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1401907822
rs1401907822
B4GALT7
1 1.000 0.040 5 177608566 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs140967767
rs140967767
MYOC ; MYOCOS
2 0.925 0.040 1 171636106 missense variant G/A snv 1.9E-04 3.4E-04 0.010 1.000 1 2011 2011
dbSNP: rs1437969513
rs1437969513
FOXC1
1 1.000 0.040 6 1611203 missense variant C/T snv 1.1E-05 0.010 1.000 1 2006 2006
dbSNP: rs1438561194
rs1438561194
WDR36
1 1.000 0.040 5 111092304 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1554200992
rs1554200992
GJA1
2 0.925 0.160 6 121446966 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs16958477
rs16958477
LOXL1 ; LOXL1-AS1
2 0.925 0.040 15 73926125 5 prime UTR variant A/C snv 0.33 0.010 1.000 1 2014 2014
dbSNP: rs17653265
rs17653265
GJA1
2 1.000 0.040 6 121447605 missense variant C/T snv 8.1E-03 9.1E-03 0.010 1.000 1 2006 2006
dbSNP: rs1799724
rs1799724
LTA ; TNF
47 0.600 0.680 6 31574705 upstream gene variant C/T snv 8.5E-02 0.010 1.000 1 2019 2019
dbSNP: rs1799750
rs1799750
MMP1 ; WTAPP1
48 0.592 0.760 11 102799765 intron variant C/- delins 0.50 0.010 1.000 1 2017 2017